Variant report

Variant	rs74118304
Chromosome Location	chr1:153585084-153585085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153578781-153585928	U87	brain:	n/a	n/a
2	POLR2A	chr1:153580416-153585950	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:153583230-153586398	IMR90	lung:	n/a	chr1:153583503-153583514 chr1:153584946-153584956 chr1:153583503-153583514 chr1:153583499-153583518 chr1:153583504-153583513 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583512 chr1:153583503-153583514 chr1:153585185-153585195 chr1:153583502-153583515 chr1:153584570-153584580 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583514 chr1:153586089-153586098
4	CTCF	chr1:153585000-153585150	AoAF	blood vessel:	n/a	n/a
5	POLR2A	chr1:153584432-153586236	MCF-7	breast:	n/a	n/a
6	SP1	chr1:153584935-153585868	A549	lung:	n/a	chr1:153585229-153585243 chr1:153585669-153585683 chr1:153584946-153584958 chr1:153584946-153584958 chr1:153584948-153584957 chr1:153585229-153585238
7	POLR2A	chr1:153585041-153585738	U87	brain:	n/a	n/a
8	POLR2A	chr1:153584990-153585633	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:153584925-153585719	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr1:153584706-153585836	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:153584098-153585176	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr1:153584585-153586025	Hela-S3	cervix:	n/a	chr1:153584946-153584956 chr1:153585185-153585195
13	HEY1	chr1:153584918-153585619	HepG2	liver:	n/a	n/a
14	SP1	chr1:153585082-153585591	HepG2	liver:	n/a	chr1:153585229-153585243 chr1:153585229-153585238
15	POLR2A	chr1:153584791-153585168	HCT-116	colon:	n/a	n/a
16	SMC3	chr1:153584650-153585977	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:153583704-153585183	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:153584631-153585698	HepG2	liver:	n/a	n/a
19	SMARCC1	chr1:153580778-153586030	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:153579147-153585872	U87	brain:	n/a	n/a
21	POLR2A	chr1:153584738-153587038	HCT-116	colon:	n/a	n/a
22	POLR2A	chr1:153584989-153585625	HepG2	liver:	n/a	n/a
23	SMARCB1	chr1:153584281-153586054	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr1:153584793-153585882	A549	lung:	n/a	chr1:153585856-153585864

No.	Distal block	Cell Line	Cell type
1	chr1:153580618..153585586-chr1:153936399..153942199,7	MCF-7	breast:
2	chr1:153505889..153508485-chr1:153582874..153585873,3	MCF-7	breast:
3	chr1:153361209..153363367-chr1:153582574..153585428,2	MCF-7	breast:
4	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
5	chr1:153519212..153523090-chr1:153584863..153588698,4	MCF-7	breast:
6	chr1:153584270..153586809-chr1:153629991..153631660,2	MCF-7	breast:
7	chr1:153585070..153587943-chr1:153641105..153643486,2	MCF-7	breast:
8	chr1:153536449..153542914-chr1:153579157..153590800,34	MCF-7	breast:
9	chr1:153524896..153526956-chr1:153582984..153585542,2	MCF-7	breast:
10	chr1:153325873..153327403-chr1:153582234..153585086,2	MCF-7	breast:
11	chr1:153585027..153585563-chr1:153599590..153600245,2	Hela-S3	cervix:
12	chr1:153505490..153510008-chr1:153584041..153589482,7	MCF-7	breast:

Variant related genes	Relation type
S100A16	TF binding region
ENSG00000189171	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000188015	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11486185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57058331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59005288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61083533	0.95[AFR][1000 genomes]
rs61296485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115501	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118303	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118305	0.95[AFR][1000 genomes]
rs74118306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118316	1.00[AMR][1000 genomes]
rs74118317	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118318	1.00[AMR][1000 genomes]
rs9700870	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153582200-153585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:153582800-153585600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:153582800-153591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:153583000-153589000	Active TSS	Esophagus	oesophagus
5	chr1:153583200-153585600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:153583200-153585600	Active TSS	HSMM	muscle
7	chr1:153583200-153585800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:153583200-153585800	Active TSS	HMEC	breast
9	chr1:153583200-153585800	Active TSS	NHLF	lung
10	chr1:153583200-153586000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:153583600-153585600	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr1:153583600-153585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:153583600-153585800	Active TSS	A549	lung
14	chr1:153583600-153590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:153583800-153585200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:153583800-153585200	Transcr. at gene 5' and 3'	NHEK	skin
17	chr1:153583800-153585400	Active TSS	Brain Substantia Nigra	brain
18	chr1:153583800-153585600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:153583800-153585600	Active TSS	Brain Hippocampus Middle	brain
20	chr1:153583800-153586200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:153584000-153585200	Active TSS	Colonic Mucosa	Colon
22	chr1:153584000-153585600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:153584000-153585600	Active TSS	Brain Anterior Caudate	brain
24	chr1:153584000-153585600	Active TSS	Brain Cingulate Gyrus	brain
25	chr1:153584000-153585800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:153584000-153585800	Active TSS	Ovary	ovary
27	chr1:153584000-153585800	Active TSS	NHDF-Ad	bronchial
28	chr1:153584000-153588600	Weak transcription	K562	blood
29	chr1:153584200-153585400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:153584200-153585600	Active TSS	Aorta	Aorta
31	chr1:153584200-153585600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:153584200-153585600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:153584200-153585600	Active TSS	Gastric	stomach
34	chr1:153584200-153585600	Active TSS	Lung	lung
35	chr1:153584200-153585600	Active TSS	Small Intestine	intestine
36	chr1:153584200-153585600	Active TSS	HSMMtube	muscle
37	chr1:153584200-153585600	Active TSS	HUVEC	blood vessel
38	chr1:153584200-153585800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:153584200-153585800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:153584200-153585800	Enhancers	Fetal Brain Male	brain
41	chr1:153584200-153585800	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr1:153584200-153585800	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr1:153584200-153585800	Active TSS	Psoas Muscle	Psoas
44	chr1:153584200-153585800	Active TSS	NH-A	brain
45	chr1:153584200-153586000	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:153584200-153588600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:153584200-153588800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr1:153584400-153585600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:153584400-153585600	Active TSS	Fetal Intestine Small	intestine
50	chr1:153584400-153585600	Active TSS	Stomach Mucosa	stomach

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